What if? Isn’t that the question many of us ask throughout lives? What if I had gone the other way at the fork? What if I had been luckier or reacted differently? What if events hadn’t turned out as they had?

Isn’t ‘what if’ a dangerous question? And yet, haven’t I asked it many times in twenty-three years?

What if Gabriella was born normal?

What if her disability was less severe? What if she needed fewer surgeries? Fewer hospitalizations? What if she didn’t have gastric reflux that brings her nausea and vomiting? Or epilepsy, causing seizures and requiring a mix of medicines that risk indecipherable side-effects?

But haven’t we sat in the ICU, noticing parents of kids on ventilators or dialysis machines, thankful that our daughter’s plight is not worse? Don’t we know others who suffer from drop seizures that threaten physical harm every time, or need more intense equipment? Why would I tempt fate?

What about narrowing my inquiry?

What if our daughter could speak in words? If she could tell us it’s her head that hurts, or her stomach? What is she aching to say? Then again, what could she express more beautifully than with a click or a whoo-ee?

What if she could walk? Would she love to run a marathon or dance the tarantella or climb a mountain? Would any of those experiences bring her more joy than riding the dunes in her beach wheelchair?

What if ‘what if’ is a selfish question? Would Gabriella want to be different than she is, or is this really about me and us (her parents and family and friends)? Is my real plea that we be spared all the hand-wringing, the backaches, the monotonous routines day after day, week after week, year after year?

And what about all we’ve learned from her? What if she hadn’t taught us to love more deeply than we ever knew? To devote ourselves to another person and to become attuned for another’s needs? What if she hadn’t shaped the way her brother sees the world?

What if she hadn’t helped me put life into perspective? What if my priorities were not based on a life shaped around her? Would I have been a different person, with other values, focused on things that seem less important to me now? If not for her, what would I write about?

What about all the great friends we’ve made, the colleagues the company I chose for the work-life balance it offered in the 1990s, the neighbors in the town we moved to for its reputation for working with families like ours, the community at the school we fought to get our daughter into?

How would my soul replace the blessings it’s gotten from a child’s unexpected gift or an adult’s act of kindness? From the wonders religious and spiritual, planned and unplanned?

What, indeed, if Gabriella was born normal?

And what is ‘normal’? Don’t so many children face challenges, from anxiety to food allergies to learning disabilities? Would I prefer she had one of those? What about the kids stricken with cancer and other life-threatening illnesses?

Am I simply wishing my child was perfect? Or am I just not acknowledging that she already is?

On Friday we, like many households across the Northeast, lost power. As with each outage we’ve experienced in the past, this brought us an extra level of apprehension.

A blackout is an inconvenience for us the same as anyone else, and no less in the winter when the heat goes out. Gabriella’s extremities are always cold, but swaddling her with blankets is enough to keep her warm. We also stress when the weather limits our ability to drive, especially with the uncertainties we face on our driveway, in case we need to take her to the emergency room, even though it’s been years since we’ve had a crisis. (I’m crossing my fingers right now.) But the main reason for our anxiety during a power failure is that most of our daughter’s medical equipment runs on electricity.

So with every report of a coming storm, the threat of an outage looms in our minds.

The nor’easter hit central New Jersey on Friday morning. The wind thrashed the tree limbs but despite forecasts of wintry mix, at first we saw only rain.

Lisa’s mom, who lives a mile away, lost her electric service after 2 p.m. By then, the snow had started. Since the outage seemed localized to her development, we offered to pick her up and bring her to our house, but she chose to stay where she was. We had a couple brown-outs soon after, one long enough to set the alarm clock’s digital display blinking on 12:00, but each time the power came back within seconds.

Those flickers brought back memories of past storms. I thought about our hulking generator, unemployed in our garage for the last five years, and I wondered if I’d remember how to get it running. And if it would start if I did.

I remembered Hurricane Irene, remembered our relief when the torrential winds and rains ended. Our electric had withstood the onslaught, and while we had lost a tree, we suffered little other damage. Until a lesser storm followed several days later and, ironically, our blackout came then. This was our first outage after installing Gabriella’s new equipment, and we were still getting used to the routines. We didn’t know what we would do without power.

We were also sleep-deprived. Our sump pump had failed, and Lisa and Alexander and I practiced our teamwork with a bucket-brigade exercise every two hours until the rains stopped the next day. We were considering booking a hotel in Pennsylvania when we found ourselves blessed with unexpected luck, as we have so many times since Gabriella’s birth. We located a generator.

To our relief, the dealer we contacted was limiting sales to customers who needed to power medical equipment. We brought it home and set it up. Soon we heard a loud humming sound and connected several green electrical cords that snaked through our rear windows to critical outlets in our daughter’s room and elsewhere.

Within a few hours, the power returned. But now we were well prepared for the next outage.

It came fourteen months later. When Hurricane Sandy hit, we were lucky to lose only power, with so many others suffering heavy damage. With newfound confidence, I rolled our barely used generator around to the back yard, got it situated just right, and pulled the cord.

Nothing.

I pulled again. It sat there, defiant.

We called our electrician and explained the situation, and he came right over, but he couldn’t start it either. Then we experienced once more the kindness of others. He had a generator he had been ready to loan to another family, but he chose instead to give it to us. “They just want it to watch television,” he confided. I felt a little self-conscious, the way I do when a cast member at Disney World offers to bring Gabriella to the front of a line of children waiting to see Minnie Mouse or Belle, but I accepted. That loaner generator held out until we could get ours repaired, and the combination saw us through the six-day outage. And we became loyal customers for life.

When the lights dimmed and went out this past Friday afternoon, I felt a certain panic. I hadn’t tested the generator in years. Would my neglect doom us to another failure?

I filled a five-gallon container with gas. By candlelight, I reacquainted myself with the directions for the generator. And I waited.

Dusk fell. Lisa and I busied ourselves, considering our options. Gabriella’s nebulizer and Infiniti feeding pump and pulse oximeter are each equipped with a battery back-up, and with her lungs sounding clear we were willing to skip one breathing treatment. We bundled her up against the increasing cold and set up the batteries. Before nine, my mother-in-law’s heat went on, which gave us new hope. We resolved to wait until daylight and use the generator then if it was still necessary.

At one point, we detected a pleasant aroma in her room. “What was that?” Lisa asked. I told her it was the smell of impending light. We kindled that optimism until after 10 p.m. That was when the lights blazed forth. Fortunate once again, we were able to get back to our everyday life.

The generator continues to wait in the back of the garage. Maybe I’ll test it one of these days.

Third of three parts

With the tumor removed, Gabriella began the healing process. Lisa and I held a vigil at her cribside. In the lounge, they offered chairs that folded out to beds. We took turns clutching at sleep, more me even though my wife was pregnant with Alexander. I pulled my knees to my chest in an exaggerated fetal position so my calves wouldn’t hang off the end. Terror touched sparks off exhaustion in the hollows of night.

It was all too much.

Again we faced an exercise in waiting. My imagination painted all sorts of dour scenarios, radiation treatment and chemo and worse. Much worse.

During rounds one morning, the mesh helmet came off. Her hairless head, the scar circling her scalp, her exaggerated hazel eyes – all of it summoned a pity too powerful for tears.

“What are we going to do?” my wife said for the dozenth time.

“I have no idea,” I confessed in the dim early light. “I’m out of hope.”

“You can’t be out of hope,” she said. “You have to keep hoping for all of us. For her.”

I knew I was the optimist in the family. I said I would try.

Soon enough we got to take her home again. The routine was familiar: the packing up of tiny clothes and hospital blankets the nurses insisted we bring with us. (I fixated on whether it was right to keep these things.) When I picked up her pink snowsuit, I remembered a moment on the day of the diagnosis when I walked in on Lisa’s mother, clutching that same snowsuit to her chest and dancing a mournful waltz, struggling for breath and understanding.

When we arrived home and I carried her into her bedroom, lifting her onto her changing table with the smile widening on her stricken face and our family around us laughing and pointing and me shivering with a hesitant joy, I wondered how much more we would all have to do the same. And I realized that I would do it however many times I had to, to keep her safe.

And then, once more, we waited. Waited for the phone to ring, for the sign that the doctors had an answer. For the results, preliminary or final, of the pathology report, from our hospital or from Chicago. Waited for anything to chip away at the horror of the frozen section.

We had waited so often before, but this was different. I could think of little else. Days passed. Lisa called their offices, first one neurologist and then the other, the plastic surgeon and the oncologist. Nothing yet. By now they should have heard something. Our minds invented explanations, mostly that they didn’t want to break it to us until Chicago confirmed the bad news.

One day, Lisa called and they told her to hold on. The plastic surgeon was coming to speak with her himself. Absently I put Gabriella down on her playmat. The darkness filled me again. I watched my wife’s face, expectant but with a sickly expression, then clearing, almost blank. Was it good or bad? She hung up.

In a dazed voice, she told me. The doctor was reluctant to get our hopes up until we got the final report from Pathology and the second opinion from Chicago, but it seemed as if the frozen section was wrong. So why did she look so pale? “He was surprised his staff didn’t tell us the last time we called,” she said.

“That was two days ago,” I said.

“He didn’t seem too phased by that.”

Anyway, it looked as if the tumor might be an angioma, a benign growth.

We could have been angry at that point, outraged even, at having been denied the answer for days that we had been desperate for, and we wonder why they hadn’t bothered to call us when they found out. “Wouldn’t they think we’d want to know that?” I asked.

Then jubilation sang through the house. I grabbed Gabriella under her arms and swung her around in merry circles, my daughter giggling with the rush.

“Be careful,” Lisa said, laughing through tears. “She just had surgery.”

A week later, Chicago seconded the opinion that the tumor was benign, although they called it cranial fasciitis. It seemed an appropriate name for the creeping monster that had cost Gabriella a piece of her skull, but in the end I didn’t care what kind of benign-tumor label they gave it.

Her feet were the first sign of trouble.

Gabriella was our first, but even without Lisa’s medical knowledge I knew something was wrong. My wife had just undergone a Cesarean birth, and thus she was a post-op patient herself, with nurses whisking around her bed in the OR. So it was me staring at her feet in terror.

One nurse said “clubfoot”. I remembered the word from novels as an unfixed ailment that left a character limping all his life. But this was my daughter, only minutes old.

They called her left foot a vertical talus. That was the first medical distinction I learned on a day of many: a clubfoot twists down and in, while a vertical talus turns up and out. Gabriella’s left foot lay parallel with her lower leg.

From her hospital bed, Lisa asked the Apgar scores and doctors and nurses discussed other symptoms I was too numb to process, but I couldn’t unsee those feet. I also couldn’t unsee her fragile eyes. Because her mom was getting treatment, I got to hold our daughter first. As soon as the nurse allowed it, I pulled her close.

But what was going on with her feet?

The pediatric orthopedist was one of the first doctors to examine Gabriella, and he reiterated the words, clubfoot and vertical talus, labels as different as her extremities themselves, the first as harsh as an insult, the other cloaked in medicalese.

He recommended casting her. In came the technician with a bowl of water and white strips like tape, dipping and laying and molding them into papier mâché booties from her knees to her toes. To my relief, the casts rendered her feet identical in shape.

It was a week later, a few hours before we recognized our daughter’s dehydration, that we removed the casts for the first time. (The orthopedic nurse had changed them a few days earlier, soaking them away layer by layer.) Now we did it ourselves, me holding her and whistling, you moistening and unwrapping the white layers like a gravelly Ace bandage. I watched with anticipation, hopeful that we would wind up with two feet that looked … well, more normal. But as I learned that day, normal had taken on a new definition in our house.

From the start, Gabriella’s feet were dissimilar. The right foot, the club, was thinner, the toes longer, inflexible, each curled atop the other, and pocked with bones that seemed out of place. One bone protruded badly, and I recall in the weeks that followed Lisa reminding me that the orthopedic surgeon had said we needed to monitor it to make sure it didn’t break through the skin. (I must have blotted out the memory of the doctor saying that originally.)

The left foot was different: flabbier, mottled purple like an uncooked sausage, more bendable. The toes were chubbier. And the bottom lay flat; I thought of the Peanuts characters.

They looked like the feet of two different unfortunate children. And yet from my early unease, those feet became a focal point of our love for her.

One day, with Gabriella lying on her back, Lisa raised her feet and squealed, “Gabriella’s got feeeeeties!”, following with a barrage of kisses, alternating in rapid-fire between her tiny soles. Our daughter found this hilarious. Soon it became a regular game for both of us.

When she was three months old, the orthopedist prescribed AFOs, orthotic devices of a hard plastic with Velcro straps that we used to press the feet into a corrected position. (Recently we found a plastic bag of her early orthotics, the tiniest with red Velcro and others changed to white.) We kept them on her at all times except during bathing, flexing exercises and bedtime.

Shortly before her second birthday, the orthopedist noted that the clubfoot was more awkward fitting into the AFO, and suggested we consider surgery. This was hardly her first – by now we had grappled with cataracts and worse – but this seemed more painful. The surgeon would have to break bones in her foot and reset them with a pin. Just the idea made my head swim.

By now the one constant was the anesthesiologist, a gentleman who lent us confidence. We also had faith in the orthopedic surgeon himself. But such a brutal procedure brought extra anxiety.

The waiting room had become familiar and we settled into our routine, reading and talking and looking at each other or off into space. This one took longer, but at last the surgeon emerged, still in his scrubs. The procedure had gone well.

Gabriella wore a cast from thighs to feet. She had been through so much, yet she smiled at us when we went to see her in recovery. Within days we took her home, and three weeks later they removed the pin – two inches long! – and changed her cast. I marveled at her resilience, still tiny but able to withstand such pain and disruption.

Even today, twenty years later, her feet retain their original profiles, the one with its curled toes and irregular bone structure, the other with the row of tiny purple veins and the flattened sole. But now, it’s their incongruity, their uniqueness, their imperfection, that makes them perfect in my eyes.

Each one of these kids is unique, and that can be the scariest thing of all.

I had worked my whole career in financial services and Lisa was a physician assistant, so we divided up the complicated stuff. I took care of savings and investments, and she handled all things medical. I had never liked science, so I was relieved that she dealt with doctors and labs. But after we had Gabriella, I had no place to hide.

Gabriella had a club foot, so we saw an orthopedic surgeon. She developed cataracts, so we went to an ophthalmologist. Over time, we took her to the neurologist and the gastroenterologist, the nephrologist and the urologist, the pulmonologist and the physiatrist.

And then there was the geneticist.

When Gabriella was six months old, we got a call from her geneticist, who had come up with a diagnosis. We became hopeful, because not knowing left us with so many unanswered questions. Would her lungs be more at risk, or her heart? Would she develop precocious puberty? Would she be susceptible to seizures?

Would she ever walk or talk?

So we went to hear the Word. With authority, the geneticist told us Gabriella had Opitz Trigonocephaly.

Huh?

Even for Lisa, this was gibberish. Opitz was a genetic syndrome so rare, there were less than 40 known cases in the world. Our geneticist proposed to write an article about discovering Gabriella’s condition, but only after we understood what Opitz Trigonocephaly meant.

First, Gabriella would be “profoundly mentally…delayed”, except the geneticist used the R word. (Even 22 years ago, it hit me like a slap.)

Second, she wouldn’t live to be a year old.

And third, there was a one-in-four chance that any future child would have the same syndrome.

We went numb.

The diagnosis put my natural optimism to the test, and I rejected it at once. Some of the traits the geneticist had ferreted out? I didn’t see them. Trigonocephaly refers to an irregular shape of the head, but Gabriella’s head looked no different from my own. A cleft in her ear-lobes, where? Lisa was also skeptical. We spent months convincing ourselves that the geneticist was motivated by hunting big game. But what if we were wrong? We reread the reference materials. We considered flying to Utah for the annual conference with Doctor Opitz and other “Opitz families”.

As Gabriella’s first birthday approached, we prayed for a miracle, or at least a misdiagnosis. With relief and vindication, we held a big party to celebrate this milestone. Didn’t this prove she didn’t have Opitz?

We hoped it was all fictitious. Maybe her brain would be unimpacted. (We already feared that she would never walk – as one of our doctors said early on, “Some kids are just good sitters” – but I pictured her as a brainy kid in a wheelchair.)

We didn’t even dare to think about the prophecy for another baby.

As time passed, we became convinced that our deepest wish had come true, and Gabriella didn’t have Opitz Trigonocephaly. Two and one-half years after that initial meeting, the geneticist reached out to us to confess that, as we had prayed and dreamed and hoped, the diagnosis was wrong.

We already knew.

Over the next twenty years, we’ve seen other geneticists, done DNA tests and blood work, tiptoed into other doctors’ offices unsure of what we might learn, but none has ever offered another answer. We’ve become more comfortable treating the symptoms as they arise, without a need to know the grand design. And we accept that Gabriella has an undiagnosed syndrome, a genetic anomaly, a mystery all her own.

For in the end, each one of these kids is unique.